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717 Possible Causes for Hypertelorism, Rarely Malignant, Skeletal Dysplasia

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[] The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[] Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[] Taybi H (1990) Radiology of syndromes, metabolic disorders and skeletal dysplasias. 3rd edn. Year Book, Chicago, pp 337–338 Google Scholar 14.[] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[]

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[] dysplasia.[] […] encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[] American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal[]

  • Osteopathia Striata

    Figure 13: H&E - Pulmonary metastasis, malignant osteoid. The patient succumbed to disease nine months after the initial diagnosis.[] We report two sporadic cases of a hitherto undescribed skeletal dysplasia with short stature and characteristic facies.[] Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies,[]

  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

    […] results in abnormal skin growth The most common cause of acanthosis nigricans is insulin resistance , usually from type 2 diabetes mellitus .Involvement of mucous membranes is rare[] FGFR3 mutation-associated conditions include five skeletal dysplasias: achondroplasia, hypochondroplasia, thanatophoric dysplasia type 1, thanatophoric dysplasia type 2 and[] Secondary symptoms can include exophthalmos, hypertelorism and exotropia. Vertebral body deformity and hearing impairment can also be present.[]

  • Pelviscapular Dysplasia

    Sarcomatous dedifferentiation ( osteosarcoma [most common 10 ], fibrosarcoma, malignant fibrous histiocytoma, or rarely chondrosarcoma ) is occasionally seen ( 1%) and is[] Pathogenic (Oct 1, 2010) no assertion criteria provided COL2A1 Stickler syndrome type 1Pathogenic (Nov 1, 2005) no assertion criteria provided COL2A1 Platyspondylic lethal skeletal[] UniProtKB/Swiss-Prot : 75 Cousin syndrome: Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism[]

  • Spondylocarpotarsal Synostosis

    Malignancy is defined by presence of metastases that arise in sites devoid of chromaffin tissue such as bone. Malignant PGLs are extremely rare. Case presentation.[] Spondylocarpotarsal synostosis syndrome (SCT) is a rare group of skeletal dysplasias, characterized by disproportionate short stature with a short trunk, abnormal segmentation[] […] recessive disorder (OMIM:272460) characterised by: short stature; vertebral, carpal and tarsal fusion; joint laxity; congenital inguinal hernias; clubfoot; and peculiar facies (hypertelorism[]

  • Freeman-Sheldon Syndrome

    Malignant hyperthermia Malignant hyperthermia or MH is a very rare severe problem which is normally activated by contact to certain medications used for general anesthesia[] dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating[] […] facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism[]

  • Osteoglophonic Dwarfism

    Albers-Schonberg disease - malignant recessive form A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone[] A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia.[] Facial anomalies exopthalmos. hypertelorism. downward displaced ears. flat nasal root. high forehead. mid- facial hypoplasia.[]

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